Paralogue Annotation for RYR1 residue 1148

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1148
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1148

No paralogue variants have been mapped to residue 1148 for RYR1.

RYR1	ELAYVFNGHRGQRWHLGSEPFGRPWQPGDV>V<GCMIDLTENTIIFTLNGEVLMSDSGSETAF	1178
RYR2	ERAFAFDGFKAQRWHQGNEHYGRSWQAGDV>V<GCMVDMNEHTMMFTLNGEILLDDSGSELAF	1192
RYR3	DQAFVFEGNRGQRWHQGSGYFGRTWQPGDV>V<GCMINLDDASMIFTLNGELLITNKGSELAF	1178
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1148I	c.3442G>A	Putative Benign		rs201174268	SIFT: Polyphen: probably damaging